Canonical Allele Identifier: CA373278676
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647181C>A , CM000671.2:g.34647181C>A GRCh38
NC_000009.11:g.34647178C>A , CM000671.1:g.34647178C>A GRCh37
NC_000009.10:g.34637178C>A NCBI36
NG_009029.1:g.5544C>A
NG_009029.2:g.5593C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.175C>A ENSP00000509954.1:p.Pro59Thr
ENST00000378842.8:c.175C>A MANE Select ENSP00000368119.4:p.Pro59Thr
ENST00000378842.7:c.175C>A ENSP00000368119.3:p.Pro59Thr
ENST00000450095.6:c.-28C>A ENSP00000401956.2:n.-28C>A
ENST00000465543.6:n.514C>A
ENST00000468099.2:n.215C>A
ENST00000472111.5:n.216C>A
ENST00000473506.6:c.175C>A ENSP00000432839.2:p.Pro59Thr
ENST00000473529.5:n.222C>A
ENST00000485531.1:n.168C>A
ENST00000487381.5:n.201C>A
ENST00000489643.6:n.205C>A
ENST00000554085.5:c.175C>A ENSP00000450419.1:p.Pro59Thr
ENST00000554139.5:n.228C>A
ENST00000554330.5:n.172C>A
ENST00000554550.5:c.175C>A ENSP00000451435.1:p.Pro59Thr
ENST00000554638.5:n.199C>A
ENST00000554897.5:c.175C>A ENSP00000450942.1:p.Pro59Thr
ENST00000554944.5:n.205C>A
ENST00000555020.5:n.205C>A
ENST00000555086.5:n.179C>A
ENST00000555214.5:n.184C>A
ENST00000556157.1:n.282C>A
ENST00000556244.1:c.59C>A
ENST00000556278.1:c.175C>A ENSP00000451792.1:p.Pro59Thr
ENST00000556403.5:n.188C>A
ENST00000556494.5:n.207C>A
ENST00000557541.5:n.368C>A
ENST00000557706.5:n.289C>A
NM_000155.3:c.175C>A NP_000146.2:p.Pro59Thr
NM_001258332.1:c.-28C>A NP_001245261.1:n.-28C>A
NM_000155.4:c.175C>A MANE Select NP_000146.2:p.Pro59Thr
NM_001258332.2:c.-28C>A NP_001245261.1:n.-28C>A